ClinVar Miner

List of variants in gene CLCN1 studied for Congenital myotonia, autosomal dominant form

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Total variants: 15
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HGVS dbSNP
CLCN1, TRP433ARG
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) rs121912810
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702

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